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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP128, TSHR
(P52T)
Single nucleotide variant
(missense variant)
Familial hyperthyroidism due to mutations in TSH receptor
+4 more
GBenign
TSHR
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign
TSHR
(R248S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GBenign
TSHR
(E727D)
Single nucleotide variant
(missense variant)
Familial hyperthyroidism due to mutations in TSH receptor
+4 more
GBenign/Likely benign
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